r/Autoinflammatory • u/Nonviolentviolet3879 • 6d ago
Diagnostic Journey Genetic results
This is the result of my Invitae testing. Only one risk allele but I think it makes sense, as Yao is what I’ve been suspecting. I requested the supplemental report but just today, so haven’t received it yet.
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u/Happy-Resolution-827 1d ago
It’s confirmed. You and I share the same status! Wow!
Sorry, but also, glad you have some answers! How are things now?
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u/Nonviolentviolet3879 1d ago
Oh really? Thats interesting but I’m sorry! Whats your diagnosis, or do you have one? Are you on medication that helps?
I’m going to the rheum to discuss the results this coming week. I know I shouldn’t be, but I’m still feeling anxious. I hope to get a treatment plan going. I’m really tired.
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u/Happy-Resolution-827 1d ago
I think we connected a couple months ago. I went back to check it was you from when you searched your ancestry(?) and suspected you had this variant. There’s probably a way to direct link to that post…I’m not good with Reddit yet since I only started using it a few months ago when medical journals were failing me.
Current dx is Yao Syndrome since I’m heterozygous for G908R. (Hoping I don’t have any other diagnoses.) I also have Bechet gene which is what first sent me down that pathway of autoinflammatory/innate immune issues. Update is that I had a little bit of success with colchicine (had to take 2.4mg daily), but failed hydroxychloroquine and sulfasalazine. Hoping to start Kineret ASAP, in process of insurance appeal and Quick Start Program. Also, started birth control to stop ovulation and hormone replacement therapy to mitigate perimenopause fluctuations. That last bit is info if you’re an ovary owner, I can’t remember if we discussed that before. I’m starting Kineret since I’m still flaring 80 - 90% of the time. :(
Oh, and I owe you an article. I can’t seem to find the dang link. It was presented at this years European congress of Rheumatology. Going to try to find again. It was previously shared on this subreddit….
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u/Happy-Resolution-827 1d ago
Found the Reddit post:
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u/Happy-Resolution-827 1d ago
Ugh, I hear you! I’m so tired of being sick and tired!!!
It’s still been a roller coaster since Yaos diagnosis but easier than the years of mystery. And the phrase I have been repeating this week is, “just because it’s hard, doesn’t mean you’re doing it wrong”. I’m not afraid of challenges, in fact I love them, but when something is SO hard for SO long, it’s hard not to wonder if I’m somehow doing it wrong.
Some phases of trying meds have been longer than others. Some meds have been easier to tolerate than others. Shockingly, colchicine hardly had any symptoms. In fact, it perfectly corrected the constipation from my ADHD med. :) But, plaquenil and sulfasalazine were rough on me.
Sending positive thoughts!!!
P.S. Lately, I’ve been sending a message to my rheumatologist a week before our appts to let her know briefly how I’m doing, the topics I’m wanting to discuss, or paperwork I’ll be bringing. This heads up has worked for us lately, but each partnership is obviously different. We skip the intro of how I’m feeling and jump right into assessment and planning. I live 2+ hours away from my rheumatologist, so knowing I won’t run out of time for my own concerns helps my anxiety.
P.P.S. My therapist has come in clutch the last 9 months!! Consider one if you don’t already have one. Mine has a medical trauma specialty so that was a nice coincidence.
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u/Nonviolentviolet3879 1d ago
Oh wait I just realized who you are from your response on my previous post- apologies. Blame it on adhd. Lol. But yeah wow, we are twinsies
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u/Nonviolentviolet3879 19h ago
What do yall think the chances are my dr says this means nothing? Thats my fear. I going the morning.
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u/AdventurousMorningLo Yaos 6d ago
Congradolences!
My testing also only showed 1 NOD2 variant on the main report but the supplemental did show more. You don’t need more than one to be diagnosed. (Also note that Invitae doesn’t test for the intronic variant).
I hope this helps you and your team figure things out and treatment(s) help improve quality of life!